EGFR mutation testing in lung cancer: a review of available methods and their use for analysis of tumour tissue and cytology samples
TLDR
Cytology samples including fine needle aspirate and pleural effusion can be used successfully to determine EGFR mutation status provided that sensitive testing methods are employed, and several different testing methods offer a more sensitive alternative to direct sequencing for the detection of common EGFR mutations.Abstract:
Aims Activating mutations in the gene encoding epidermal growth factor receptor (EGFR) can confer sensitivity to EGFR tyrosine kinase inhibitors such as gefitinib in patients with advanced non-small-cell lung cancer. Testing for mutations in EGFR is therefore an important step in the treatment-decision pathway. We reviewed reported methods for EGFR mutation testing in patients with lung cancer, initially focusing on studies involving standard tumour tissue samples. We also evaluated data on the use of cytology samples in order to determine their suitability for EGFR mutation analysis.
Methods We searched the MEDLINE database for studies reporting on EGFR mutation testing methods in patients with lung cancer.
Results Various methods have been investigated as potential alternatives to the historical standard for EGFR mutation testing, direct DNA sequencing. Many of these are targeted methods that specifically detect the most common EGFR mutations. The development of targeted mutation testing methods and commercially available test kits has enabled sensitive, rapid and robust analysis of clinical samples. The use of screening methods, subsequent to sample micro dissection, has also ensured that identification of more rare, uncommon mutations is now feasible. Cytology samples including fine needle aspirate and pleural effusion can be used successfully to determine EGFR mutation status provided that sensitive testing methods are employed.
Conclusions Several different testing methods offer a more sensitive alternative to direct sequencing for the detection of common EGFR mutations. Evidence published to date suggests cytology samples are viable alternatives for mutation testing when tumour tissue samples are not available.read more
Citations
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Clinical mutational profiling of 1006 lung cancers by next generation sequencing.
Peter B. Illei,Deborah A. Belchis,Li Hui Tseng,Li Hui Tseng,Doreen Nguyen,Federico De Marchi,Federico De Marchi,Lisa Haley,Stacy Riel,Katie Beierl,Gang Zheng,Julie R. Brahmer,Frederic B. Askin,Christopher D. Gocke,James R. Eshleman,Patrick M. Forde,Ming Tseh Lin +16 more
TL;DR: The experience using next generation sequencing to examine AKT1, BRAF, EGFR, ERBB2, KRAS, NRAS, and PIK3CA genes in 1006 non-small cell lung cancers in a clinical diagnostic setting demonstrates high sensitivity, broad reportable range, quantitative VAF measurement, single molecule sequencing to resolve complex deletion mutations, and simultaneous detection of concomitant mutations.
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Nucleic acid extraction methods from fixed and paraffin-embedded tissues in cancer diagnostics.
Serena Bonin,Giorgio Stanta +1 more
TL;DR: The present review deals with most of the variables connected to the extraction of nucleic acids from formalin-fixed paraffin-embedded tissues, ranging from tissue processing to quality control of extracts.
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Insufficiency of peripheral blood as a substitute tissue for detecting EGFR mutations in lung cancer: a meta-analysis
TL;DR: The results of this meta-analysis suggest that peripheral blood is insufficient as a substitute for tumor tissues in detecting EGFR mutations in clinical practice.
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EGFR T790M mutation testing of non-small cell lung cancer tissue and blood samples artificially spiked with circulating cell-free tumor DNA: results of a round robin trial
Jana Fassunke,Michaela Angelika Ihle,Dido Lenze,Annika Lehmann,Michael Hummel,Claudia Vollbrecht,Roland Penzel,Anna-Lena Volckmar,Albrecht Stenzinger,Volker Endris,Andreas Jung,Ulrich Lehmann,Silke Zeugner,Gustavo Baretton,Hans Kreipe,Peter Schirmacher,Thomas Kirchner,Manfred Dietel,Reinhard Büttner,Sabine Merkelbach-Bruse +19 more
TL;DR: The results demonstrate that blood-based genotyping for EGFR resistance mutations can be successfully integrated in routine molecular diagnostics complementing the array of molecular methods already available at pathology centers in Germany.
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Epidermal Growth Factor Receptor (EGFR) Kinase Inhibitors and Non-Small Cell Lung Cancer (NSCLC) – Advances in Molecular Diagnostic Techniques to Facilitate Targeted Therapy
TL;DR: The use of molecular data, in conjunction with other clinical and diagnostic information, will assist physicians to make the best therapeutic choice for each patient with advanced NSCLC.
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Gefitinib or Carboplatin–Paclitaxel in Pulmonary Adenocarcinoma
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Journal ArticleDOI
Gefitinib or Chemotherapy for Non–Small-Cell Lung Cancer with Mutated EGFR
Makoto Maemondo,Akira Inoue,Kunihiko Kobayashi,Shunichi Sugawara,Satoshi Oizumi,Hiroshi Isobe,Akihiko Gemma,Masao Harada,Hirohisa Yoshizawa,Ichiro Kinoshita,Yuka Fujita,Shoji Okinaga,Haruto Hirano,Kozo Yoshimori,Toshiyuki Harada,Takashi Ogura,Masahiro Ando,Hitoshi Miyazawa,Tomoaki Tanaka,Yasuo Saijo,Koichi Hagiwara,Satoshi Morita,Toshihiro Nukiwa +22 more
TL;DR: First-line gefitinib for patients with advanced non-small-cell lung cancer who were selected on the basis of EGFR mutations improved progression-free survival, with acceptable toxicity, as compared with standard chemotherapy.
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